Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	51506
Gene name	Ubiquitin-fold modifier conjugating enzyme 1
Gene symbol	UFC1
Synonyms (NCBI Gene)	HSPC155NEDSG
Chromosome	1
Chromosome location	1q23.3
Summary	UFC1 is an E2-like conjugating enzyme for ubiquitin-fold modifier-1 (UFM1; MIM 610553) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Mar 2008]

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1181612302	G>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030112	hsa-miR-26b-5p	Microarray	19088304
MIRT031996	hsa-miR-16-5p	Sequencing	20371350
MIRT037383	hsa-miR-744-5p	CLASH	23622248
MIRT456337	hsa-miR-595	PAR-CLIP	23592263
MIRT456336	hsa-miR-487b-3p	PAR-CLIP	23592263
MIRT456335	hsa-miR-4424	PAR-CLIP	23592263
MIRT456337	hsa-miR-595	PAR-CLIP	23592263
MIRT456336	hsa-miR-487b-3p	PAR-CLIP	23592263
MIRT456335	hsa-miR-4424	PAR-CLIP	23592263
MIRT2142372	hsa-miR-1184	CLIP-seq
MIRT2142373	hsa-miR-1301	CLIP-seq
MIRT2142374	hsa-miR-217	CLIP-seq
MIRT2142375	hsa-miR-2355-5p	CLIP-seq
MIRT2142376	hsa-miR-3650	CLIP-seq
MIRT2142377	hsa-miR-4418	CLIP-seq
MIRT2142378	hsa-miR-4659a-3p	CLIP-seq
MIRT2142379	hsa-miR-4659b-3p	CLIP-seq
MIRT2142380	hsa-miR-4660	CLIP-seq
MIRT2142381	hsa-miR-5047	CLIP-seq
MIRT2142382	hsa-miR-509-3-5p	CLIP-seq
MIRT2142383	hsa-miR-509-5p	CLIP-seq
MIRT2142384	hsa-miR-802	CLIP-seq
MIRT2362918	hsa-miR-3925-3p	CLIP-seq
MIRT2362919	hsa-miR-548u	CLIP-seq
MIRT2362920	hsa-miR-766	CLIP-seq
MIRT2142375	hsa-miR-2355-5p	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20018847, 25902260, 29868776, 30886146, 32296183, 32814053, 33961781, 37595036
GO:0007420	Process	Brain development	IMP	29868776
GO:0032649	Process	Regulation of type II interferon production	IEA
GO:0032649	Process	Regulation of type II interferon production	ISS
GO:0034976	Process	Response to endoplasmic reticulum stress	IBA
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	23152784
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	32160526
GO:0061657	Function	UFM1 conjugating enzyme activity	IDA	15071506, 34588452, 36121123, 38383789
GO:0061657	Function	UFM1 conjugating enzyme activity	IEA
GO:0061657	Function	UFM1 conjugating enzyme activity	IMP	37036982
GO:0061709	Process	Reticulophagy	IBA
GO:0061709	Process	Reticulophagy	IMP	32160526
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071568	Function	UFM1 transferase activity	IBA
GO:0071569	Process	Protein ufmylation	IDA	20018847, 30886146, 32160526
GO:0071569	Process	Protein ufmylation	IDA	15071506, 34588452, 36121123, 38383789
GO:0071569	Process	Protein ufmylation	IEA
GO:0071569	Process	Protein ufmylation	IMP	23152784
GO:0071569	Process	Protein ufmylation	IMP	29868776, 30626644, 32160526, 37036982
GO:1990592	Process	Protein K69-linked ufmylation	IDA	25219498

MIM	HGNC	e!Ensembl
610554	26941	ENSG00000143222

Q9Y3C8

Protein name

Ubiquitin-fold modifier-conjugating enzyme 1 (Ufm1-conjugating enzyme 1)

Protein function

E2-like enzyme which specifically catalyzes the second step in ufmylation (PubMed:15071506, PubMed:29868776, PubMed:30626644, PubMed:34588452, PubMed:35394863, PubMed:36121123, PubMed:38383789). Accepts the ubiquitin-like modifier UFM1 from the

PDB

2K07 , 2Z6O , 2Z6P , 3EVX , 7NVJ , 7NVK , 7NW1 , 7OVC , 8BZR , 8C0D

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08694	UFC1	6 → 160	Ubiquitin-fold modifier-conjugating enzyme 1	Domain

Sequence

MADEATRRVVSEIPVLKTNAGPRDRELWVQRLKEEYQSLIRYVENNKNADNDWFRLESNK
EGTRWFGKCWYIHDLLKYEFDIEFDIPITYPTTAPEIAVPELDGKTAKMYRGGKICLTDH
FKPLWARNVPKFGLAHLMALGLGPWLAVEIPDLIQKGVIQHKEKCNQ

Sequence length

167

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with spasticity and poor growth	Pathogenic; Likely pathogenic	rs1248346344, rs1553232770, rs1181612302	RCV002284999 RCV000677144 RCV000677145

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
UFC1-related disorder	Uncertain significance; Likely benign	rs139173256, rs142789001, rs142213109	RCV003918952 RCV003924750 RCV003937226

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	40596977
Brain Diseases	Associate	29868776, 30552426
Breast Neoplasms	Associate	31544897, 35680375
Carcinoma Non Small Cell Lung	Associate	35327612
Developmental Disabilities	Associate	30552426
Epileptic Encephalopathy Early Infantile 3	Associate	30552426
Microcephaly	Associate	29868776
Neoplasms	Associate	31544897, 35327612
Stomach Neoplasms	Associate	29970131
Stroke	Associate	40596977

UFC1 (ubiquitin-fold modifier conjugating enzyme 1)